Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:Npas1'

559853

Institutional Source

Beutler Lab

Gene Symbol

Npas1

Ensembl Gene

ENSMUSG00000001988

Gene Name

neuronal PAS domain protein 1

Synonyms

MOP5, bHLHe11

MMRRC Submission

045336-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16189643-16210741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16208733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 48 (E48G)

Ref Sequence

ENSEMBL: ENSMUSP00000147412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000210748]

AlphaFold

P97459

Predicted Effect

probably damaging
Transcript: ENSMUST00000002053
AA Change: E48G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: E48G

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
HLH	51	106	1.44e-6	SMART
low complexity region	109	128	N/A	INTRINSIC
PAS	137	203	1.09e-11	SMART
low complexity region	212	223	N/A	INTRINSIC
low complexity region	275	288	N/A	INTRINSIC
PAS	294	360	5.32e-6	SMART
PAC	366	409	5.64e0	SMART
low complexity region	428	443	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
low complexity region	574	587	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210748
AA Change: E48G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,179,242 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Actl11	A	T	9: 107,806,069 (GRCm39)	K131*	probably null	Het
Adam39	A	T	8: 41,277,812 (GRCm39)	R68*	probably null	Het
Akap7	A	T	10: 25,147,405 (GRCm39)	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,338,721 (GRCm39)	A14S	probably benign	Het
Ccdc141	T	G	2: 76,879,927 (GRCm39)	N632T	probably benign	Het
Ccm2	T	C	11: 6,546,302 (GRCm39)	S435P	probably damaging	Het
Cd36	A	G	5: 18,019,187 (GRCm39)	L178P	probably damaging	Het
Cd7	T	C	11: 120,929,075 (GRCm39)	I59V	probably benign	Het
Cds2	T	A	2: 132,135,204 (GRCm39)	S32T	probably benign	Het
Cep19	A	G	16: 31,925,904 (GRCm39)	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753 (GRCm39)	P68S	unknown	Het
Col20a1	A	G	2: 180,649,024 (GRCm39)	H1011R	probably damaging	Het
Cspg4b	A	T	13: 113,504,463 (GRCm39)	D1864V		Het
D7Ertd443e	A	G	7: 133,896,851 (GRCm39)	V513A	probably damaging	Het
Egfr	C	T	11: 16,818,162 (GRCm39)	P228L	probably damaging	Het
Fam243	C	T	16: 92,118,037 (GRCm39)	V84M	probably damaging	Het
Fam78b	A	G	1: 166,906,131 (GRCm39)	R97G	probably damaging	Het
Flt1	C	T	5: 147,540,386 (GRCm39)	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,288,050 (GRCm39)	N96Y	probably damaging	Het
Gm7168	T	A	17: 14,169,622 (GRCm39)	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,424,203 (GRCm39)	N683S	unknown	Het
Ice2	C	T	9: 69,335,782 (GRCm39)	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,079,260 (GRCm39)	V81A	not run	Het
Irs1	A	G	1: 82,265,177 (GRCm39)	I1013T	probably benign	Het
Itih4	T	C	14: 30,621,432 (GRCm39)	S832P	probably damaging	Het
Klhl1	A	T	14: 96,517,513 (GRCm39)	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,348,601 (GRCm39)	S2698L	unknown	Het
Map4k4	T	C	1: 40,058,829 (GRCm39)	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823 (GRCm39)	G1519W	probably damaging	Het
Mga	T	A	2: 119,747,809 (GRCm39)	D653E	probably damaging	Het
Nup188	G	A	2: 30,231,842 (GRCm39)		probably null	Het
Or1p1b	G	T	11: 74,130,394 (GRCm39)	M1I	probably null	Het
Or3a4	T	A	11: 73,945,223 (GRCm39)	M121L	probably damaging	Het
Or4c110	G	A	2: 88,832,075 (GRCm39)	L186F		Het
Or51a39	A	G	7: 102,362,873 (GRCm39)	V249A	possibly damaging	Het
Or55b4	A	T	7: 102,133,574 (GRCm39)	V251D	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Oxct1	T	C	15: 4,158,383 (GRCm39)	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,652,341 (GRCm39)	G13W	probably damaging	Het
Pex11g	A	G	8: 3,509,237 (GRCm39)	V230A	probably benign	Het
Pop1	C	T	15: 34,510,525 (GRCm39)	S439L	probably damaging	Het
Ptpn9	T	A	9: 56,929,533 (GRCm39)	H83Q	probably benign	Het
Qrfp	C	T	2: 31,698,704 (GRCm39)	R76H	probably benign	Het
Slc30a3	A	G	5: 31,246,139 (GRCm39)	V197A	probably benign	Het
Slc8a3	T	C	12: 81,361,047 (GRCm39)	N591D	possibly damaging	Het
Sp4	G	T	12: 118,263,807 (GRCm39)	Q80K	possibly damaging	Het
Spock1	C	T	13: 58,055,316 (GRCm39)	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,391,674 (GRCm39)	P109Q	probably damaging	Het
Suz12	T	A	11: 79,904,309 (GRCm39)	F239L	probably damaging	Het
Tbx3	A	G	5: 119,813,648 (GRCm39)	Y248C	probably damaging	Het
Trabd2b	T	C	4: 114,266,637 (GRCm39)	L217P	probably damaging	Het
Ubxn11	A	C	4: 133,853,726 (GRCm39)	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,401,884 (GRCm39)	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,023,900 (GRCm39)	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,592,347 (GRCm39)		probably null	Het
Vps13c	G	A	9: 67,853,107 (GRCm39)	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,275,032 (GRCm39)	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,866,209 (GRCm39)	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908 (GRCm39)	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,547 (GRCm39)	D133G	probably benign	Het
Zcchc14	T	C	8: 122,335,200 (GRCm39)	I307V	unknown	Het
Zfp933	G	A	4: 147,910,636 (GRCm39)	T320I	probably benign	Het

Other mutations in Npas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Npas1	APN	7	16,197,247 (GRCm39)	missense	probably benign	0.05
IGL01627:Npas1	APN	7	16,199,111 (GRCm39)	missense	probably damaging	1.00
IGL02812:Npas1	APN	7	16,190,041 (GRCm39)	missense	probably damaging	1.00
IGL03141:Npas1	APN	7	16,199,063 (GRCm39)	missense	probably damaging	1.00
D4043:Npas1	UTSW	7	16,197,169 (GRCm39)	splice site	probably null
H8786:Npas1	UTSW	7	16,195,275 (GRCm39)	missense	possibly damaging	0.51
R0218:Npas1	UTSW	7	16,195,818 (GRCm39)	missense	probably benign	0.39
R1736:Npas1	UTSW	7	16,208,541 (GRCm39)	missense	probably benign	0.24
R1795:Npas1	UTSW	7	16,208,725 (GRCm39)	missense	probably damaging	1.00
R2093:Npas1	UTSW	7	16,193,202 (GRCm39)	missense	probably benign
R2570:Npas1	UTSW	7	16,208,628 (GRCm39)	missense	probably damaging	1.00
R4057:Npas1	UTSW	7	16,208,712 (GRCm39)	missense	probably damaging	1.00
R4385:Npas1	UTSW	7	16,193,110 (GRCm39)	critical splice donor site	probably null
R5937:Npas1	UTSW	7	16,197,187 (GRCm39)	missense	probably benign	0.15
R6456:Npas1	UTSW	7	16,195,851 (GRCm39)	missense	probably benign	0.44
R7544:Npas1	UTSW	7	16,194,899 (GRCm39)	splice site	probably null
R8221:Npas1	UTSW	7	16,189,890 (GRCm39)	missense	probably damaging	1.00
R8393:Npas1	UTSW	7	16,195,266 (GRCm39)	missense	probably damaging	1.00
R9158:Npas1	UTSW	7	16,195,333 (GRCm39)	missense	possibly damaging	0.53
R9382:Npas1	UTSW	7	16,190,231 (GRCm39)	critical splice acceptor site	probably null
R9653:Npas1	UTSW	7	16,190,146 (GRCm39)	missense	probably benign	0.00
Z1177:Npas1	UTSW	7	16,196,178 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCAATCCTGTCCCCAAGG -3'
(R):5'- AGACCTTCAGTTCAAACCCTAGTAC -3'

Sequencing Primer
(F):5'- TGAGCATGCGCACTCAC -3'
(R):5'- GTTCAAACCCTAGTACCCCAAATAC -3'

Posted On

2019-06-26